Clinical report updates diagnostic criteria for Marfan syndrome

dr tinkleThe revised AAP clinical report Health Supervision for Children with Marfan Syndrome incorporates the revised Ghent diagnostic criteria and updates several key clinical areas.

This long-awaited update from the AAP Committee on Genetics is designed to assist pediatricians in recognizing the features of the syndrome and caring for patients. It replaces the 1996 guidance and is published in the October issue of Pediatrics.


Marfan syndrome is a heritable, multisystem disorder of connective tissue with extensive clinical variability. It is a relatively common condition, with approximately one in 5,000 people affected. About 25% of cases are sporadic, but some familial cases go unrecognized. Often, it is the pediatrician who is central to the diagnosis and ultimately the management of this condition. The pediatrician often recognizes features concerning for Marfan and refers for further evaluation, which may be cardiac or genetic.

Read More: AAP News


Hannah on the run to help Annabelle – Vascular Ehlers-Danlos Syndrome

marfan-syndrome-uk-logo-square150A KIND-HEARTED teenager has completed a 10k run with her mum to raise money for a Bury youngster with an incurable and life-threatening condition.

Four-year-old Annabelle Griffin, of Wilby Close, Brandlesholme, suffers from life-threatening Vascular Ehlers-Danlos Syndrome (VEDS) which means just a slight knock could mean a hospital visit.

Sixteen-year-old Hannah Alderson, of Lomand Drive, Tottington, is friends with Annabelle’s older brother Ryan and follows the family’s online fundraising campaign, Annabelle’s Challenge.

Hannah, a student at Holy Cross College, ran in aid of Ehlers-Danlos Support UK, a charity which funds research and helps suffers from the rare genetic condition live full lives.

Alongside mum Donna, aged 46, and family friend Natalie Burke, aged 39, Hannah completed the race in 48 minutes — smashing their original £200 target by raising around £450.

She said: “After meeting Annabelle when being over at the Griffin household, I knew I wanted to help her in some way. She is such a lovely little girl who showed me a thing or two on the hula hoop so the least I could do was to raise money and awareness of EDS and Annabelle’s Challenge.”

Read More: This is Lancashire

Losartan shown effective in Marfan syndrome

losartanAMSTERDAM – Daily losartan significantly slowed the aortic root dilatation rate in adults with Marfan syndrome in a 3-year randomized clinical trial.

“I think we can be positive about this treatment. We can now recommend losartan in clinical practice,” Dr. Maarten Groenink said at the annual congress of the European Society of Cardiology.

The COMPARE (Cozaar in Marfan Patients Reduces Aortic Enlargement) trial included 218 patients at all four university Marfan centres in the Netherlands. Patients were randomized to oral losartan at a target dose of 100 mg/day or no losartan in addition to standard-of-care treatment with beta-blockers. Roughly half of the patients in the losartan group were unable to tolerate the full dose of losartan in addition to a beta-blocker; those patients were maintained on losartan at 50 mg/day. Aortic root diameter was measured by MRI at enrollment and after 3 years of prospective follow-up. The aortic dilatation rate was significantly lower in the losartan group than in controls both in the patients with a native root and in those who had undergone aortic root replacement surgery, reported Dr. Groenink, a cardiologist at the Academic Medical Centre, Amsterdam.

Read More: Family Practice News

Cameron’s wish comes true – Ehlers Danlos Syndrome

carAn eight-year-old Eastbourne boy’s dream of driving a Lamborghini has come true thanks to the Starlight Children’s Foundation.

Cameron Jones suffers from a complex form of the genetic disorder called Ehlers Danlos Syndrome, where collagen fails to form properly in the body that affects the skin, ligaments, and internal organs.

Despite spending a lot of time in hospital for treatment, physiotherapy and investigations, Cameron has developed a keen interest in fast cars and bikes, fuelled by a neighbour who has an old Harley Davidson.

When Cameron’s grandmother heard about Starlight and knowing how much Cameron had been through, she decided to put him forward for a wish.

Once Cameron knew he was eligible for a wish it didn’t take long for the fast car enthusiast to choose a ride in a very fast car like a Lamborghini.

Cameron’s Starlight wish was granted during the school summer holidays when he and his family travelled up to London the night before to spend the evening at the Park Plaza Hotel.

Read More: Eastbourne Herald

Blood Test on the Horizon to Detect Aortic Aneurysm and Aortic Dissection

marfan-syndrome-uk-logo-square150A team of investigators has developed an innovative blood test that may provide a faster, simpler way for emergency room doctors and others to diagnose and monitor potentially deadly aortic aneurysms and aortic dissections (a tear in the wall of the aorta) for which early diagnosis is critical for survival. The aorta is the large artery that carries blood away from the heart. Aortic aneurysms and dissections, which often have symptoms similar to a heart attack, cause more than 10,000 deaths annually in the U.S., according to the Centers for Disease Control. Certain types of dissections (Type A), if left untreated, kill 33% of patients within the first 24 hours, and 50% of patients within 48 hours, according to research by the International Registry of Acute Aortic Dissections (IRAD).

The research from Shriners Hospital for Children and Oregon Health & Science University, in Portland, and Baylor College of Medicine and the Texas Heart Institute in Houston, which was published online today by Circulation Research, found that high blood levels of fibrillin-1, a protein essential to the make-up of the body’s connective tissue and blood vessels, are about twice as common in people with thoracic aortic aneurysm than in people with other types of aortic aneurysms. The high fibrillin-1 levels most likely are caused by damage to connective tissue or blood vessels. The researchers also found that high levels of fibrillin-1 fragments are more likely to be associated with aortic dissection, the life-threatening tear in the aorta. These new findings are potentially revolutionary because they mean that fibrillin-1 could someday be used in a blood test to diagnose aortic aneurysm and dissection. Currently, the diagnosis is made through medical imaging, such as echocardiography, MRI, and CT scanning.

Read More: PRWeb

Guinness World Record holder Garry Turner and his very stretchy face

garryTwo officially amazing Lincolnshire record-breakers have earned their places in the new book of Guinness World Records.
Garry Turner, 44, above, from Holton le Moor, near Market Rasen, can stretch the skin of his stomach to a distended length of 15.8cm or 6.25 inches due to a rare medical condition called Ehlers-Danlos Syndrome.

And mum-of-two Emily Foran, 36, from Sleaford, left, holds the record for the fastest marathon dressed as a fairy (female) after she ran the Virgin London Marathon on April 17, 2011, in wings and a tutu, and carried a wand for the duration of the race.

Read more: This is Lincs 

McKeand Stadium banner commemorates tragic loss to Marfan Syndrome

Nathan GliddenMarfan syndrome tore into the very fabric that is the Shelbyville football program last January.

Todd Glidden’s death left starting left offensive guard, Nathan Glidden, without a father. And the football program lost a huge supporter.

Upon his death, the Glidden family asked that donations be made to the National Marfan Foundation and the Shelbyville High School football program.

Rather than spend the donated money on equipment or upgrades, head coach Pat Parks wanted to do something to honor Todd’s memory. Through a conversation with offensive coordinator Scott Fitzgerald, the idea to hang a banner at J.M. McKeand Stadium was born.

“I wanted to do something that was, not say permanent, but this is going to probably be here for awhile,” Parks said.

On Aug. 30, prior to Shelbyville’s home opener against Franklin, the Glidden family was introduced to the hometown crowd. Public address announcer Jeff Kolls then explained that the new black and gold banner hanging over the press box that read “Together We Attack” was a direct result of the money donated in Glidden’s name.

Read More: Shelby